DSG3

desmoglein 3

Summary

This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. The encoded protein has been identified as the autoantigen of the autoimmune blistering disease pemphigus vulgaris. [provided by RefSeq, Jan 2016]

Known Variants96 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1824476	18:29,027,401	T/C	—	benign
rs10084010	18:29,027,745	C/T	—	benign
rs8085523	18:29,027,757	C/T	—	benign
rs8085532	18:29,027,771	T/C	—	benign
rs202064914	18:29,027,845	T/C	—	likely benign
rs8089502	18:29,028,184	C/G	—	benign
rs3848485	18:29,036,316	A/G	—	benign
rs66889852	18:29,036,842	C/G	—	benign
rs150234659	18:29,037,013	A/G	—	uncertain significance
rs17660414	18:29,037,131	T/C	—	benign
rs68094756	18:29,037,416	A/T	—	benign
rs1941184	18:29,038,123	A/C	intron variant	benign
rs7240573	18:29,038,263	G/A	—	benign
rs7241611	18:29,038,316	T/C	—	benign
rs2510890175	18:29,038,526	C/A	—	uncertain significance
rs781252518	18:29,038,531	A/G	—	uncertain significance
rs2510890185	18:29,038,532	T/C	—	uncertain significance
rs7240789	18:29,038,536	C/T	—	benign
rs137884016	18:29,038,537	G/C	—	uncertain significance
rs371200207	18:29,038,541	G/A	—	uncertain significance
rs34861682	18:29,038,766	G/A	—	benign
rs1210610166	18:29,039,109	C/A	—	uncertain significance
rs373067281	18:29,039,135	C/A	—	uncertain significance
rs2276105	18:29,039,283	G/A	—	benign
rs3737365	18:29,039,761	T/C	—	benign
rs1160644964	18:29,039,807	G/A	—	uncertain significance
rs2510890918	18:29,039,853	A/T	—	uncertain significance
rs150764801	18:29,039,946	G/T	—	benign
rs1870642	18:29,039,969	C/A	—	benign
rs2510891008	18:29,039,972	G/A	—	uncertain significance
rs3737364	18:29,040,756	T/A	—	benign
rs772960249	18:29,040,811	C/T	—	uncertain significance
rs781316270	18:29,040,868	T/C	—	uncertain significance
rs571498043	18:29,040,878	A/C	—	uncertain significance
rs144335146	18:29,041,199	C/G	—	uncertain significance
rs1320128189	18:29,041,203	T/C	—	uncertain significance
rs1472943015	18:29,041,235	C/T	—	pathogenic
rs2510891743	18:29,041,305	G/A	—	uncertain significance
rs758453872	18:29,041,314	G/A	—	uncertain significance
rs369821354	18:29,041,340	C/A	—	uncertain significance
rs373365493	18:29,041,354	A/T	—	uncertain significance
rs7229490	18:29,041,410	T/A	—	benign
rs555118940	18:29,044,100	C/A	—	uncertain significance
rs377115190	18:29,044,225	G/A	—	uncertain significance
rs151296663	18:29,044,288	T/A	—	uncertain significance
rs1460595	18:29,045,257	G/A	—	benign
rs770073709	18:29,045,364	G/A	—	uncertain significance
rs2035040	18:29,046,145	T/C	—	benign
rs2035041	18:29,046,192	C/T	—	benign
rs2035042	18:29,046,398	G/A	—	benign
rs35427815	18:29,046,401	T/C	—	benign
rs35293326	18:29,046,430	T/G	—	benign
rs779976603	18:29,046,502	G/A	—	uncertain significance
rs16961975	18:29,046,606	G/A	—	benign
rs761041733	18:29,046,618	G/A	—	uncertain significance
rs144565301	18:29,046,693	G/A	—	likely benign
rs3794925	18:29,046,967	C/T	—	benign
rs11660216	18:29,049,018	C/T	—	benign
rs769246997	18:29,049,058	C/T	—	uncertain significance
rs772341357	18:29,049,087	C/A	—	uncertain significance
rs370252237	18:29,049,088	C/G	—	uncertain significance
rs753934890	18:29,049,105	A/G	—	likely benign
rs61730311	18:29,049,138	T/C	—	benign
rs2510894552	18:29,049,214	C/T	—	uncertain significance
rs1227822370	18:29,049,304	T/A	—	uncertain significance
rs35777565	18:29,049,372	A/G	—	benign
rs1301941060	18:29,052,247	T/C	—	uncertain significance
rs377007515	18:29,052,276	T/G	—	uncertain significance
rs1234554497	18:29,052,300	G/A	—	uncertain significance
rs2072860701	18:29,052,306	G/A	—	uncertain significance
rs2510896053	18:29,052,328	A/G	—	uncertain significance
rs35242229	18:29,052,883	G/C	—	benign
rs7244586	18:29,053,004	A/C	—	benign
rs3810005	18:29,053,876	T/C	—	benign
rs201074636	18:29,054,189	G/C	—	uncertain significance
rs61730312	18:29,054,190	C/T	—	benign
rs138055234	18:29,054,315	A/T	—	uncertain significance
rs145985329	18:29,054,366	A/T	—	uncertain significance
rs73414237	18:29,055,468	T/C	—	benign
rs117661169	18:29,055,635	T/C	—	benign
rs779199591	18:29,055,673	A/G	—	uncertain significance
rs141490338	18:29,055,693	A/G	—	uncertain significance
rs61730314	18:29,055,700	C/G	—	uncertain significance
rs200747593	18:29,055,704	T/C	—	benign
rs144985839	18:29,055,705	G/A	—	uncertain significance
rs771266691	18:29,055,789	C/G	—	uncertain significance
rs2072883466	18:29,055,835	A/G	—	uncertain significance
rs753295246	18:29,055,855	G/A	—	uncertain significance
rs2510898061	18:29,055,909	G/T	—	uncertain significance
rs1380866	18:29,055,957	A/G	missense variant	benign
rs763571253	18:29,055,967	C/G	—	uncertain significance
rs1461975577	18:29,056,006	A/G	—	uncertain significance
rs73414241	18:29,056,101	A/G	—	benign
rs141447616	18:29,056,171	G/A	—	uncertain significance
rs1158935763	18:29,056,182	A/G	—	uncertain significance
rs1466379	18:29,056,465	A/G	—	benign

Gene information from NCBI Gene. Variant classifications from ClinVar.